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Renal coloboma syndrome

Synonyms
CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES; COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE; CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES; OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES; OPTIC NERVE COLOBOMA WITH RENAL DISEASE; PAPILLORENAL SYNDROME; PAPILLORENAL SYNDROME WITH MILD OCULAR ABNORMALITIES; RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

PAX2-related disorder is an autosomal dominant disorder associated with renal and eye abnormalities. The disorder was originally referred to as renal coloboma syndrome and characterized by renal hypodysplasia and abnormalities of the optic nerve; with improved access to molecular testing, a wider range of phenotypes has been recognized in association with pathogenic variants in PAX2. Abnormal renal structure or function is noted in 92% of affected individuals and ophthalmologic abnormalities in 77% of affected individuals. Renal abnormalities can be clinically silent in rare individuals. In most individuals, clinically significant renal insufficiency / renal failure is reported. End-stage renal disease requiring renal transplant is not uncommon. Uric acid nephrolithiasis has been reported. Ophthalmologic abnormalities are typically described as optic nerve coloboma or dysplasia. Iris colobomas have not been reported in any individual with PAX2–related disorder. Ophthalmologic abnormalities may significantly impair vision in some individuals, while others have subtle changes only noted after detailed ophthalmologic examination. Additional clinical findings include high-frequency sensorineural hearing loss, soft skin, and ligamentous laxity. PAX2 pathogenic variants have been identified in multiple sporadic and familial cases of nonsyndromic renal disease including renal hypodysplasia and focal segmental glomerulosclerosis. [from GeneReviews]

Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FSGS7, PAPRS, PAX-2, PAX2
    Summary: paired box 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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